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Causes of Sickle Cell Anemia
- Background: Sickle cell anemia is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. This mutation leads to the production of abnormal hemoglobin, called hemoglobin S (HbS). When oxygen levels are low, HbS causes red blood cells to deform into a sickle shape.
- Impact: Since sickle cells can’t move smoothly through blood vessels, they cause blockages and reduce oxygen delivery to tissues, leading to a range of complications.
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Symptoms and Complications
- Explanation: Symptoms include fatigue, shortness of breath, jaundice, episodes of severe pain (called sickle cell crises), and delayed growth in children. Complications can involve organ damage, stroke, vision problems, and increased infection risk.
- Impact: The symptoms and complications greatly affect quality of life and can lead to life-threatening conditions if not managed properly.
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Diagnosis and Screening
- Explanation: Sickle cell anemia is typically diagnosed through a blood test that detects the presence of HbS. Newborn screening programs have enabled early detection, which is crucial for managing symptoms and preventing complications.
- Impact: Early diagnosis allows for timely interventions, such as vaccinations and preventive antibiotics, to reduce complications.
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Treatment and Management
- Explanation: There is no universal cure for sickle cell anemia, but treatments include medications to reduce pain and prevent complications, blood transfusions, and, in severe cases, bone marrow or stem cell transplants. Hydroxyurea, a medication that stimulates fetal hemoglobin production, can also help reduce the frequency of sickle cell crises.
- Impact: Effective treatment can reduce symptoms and improve life expectancy, but ongoing research aims to find better therapies and potential cures.
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